Canonical Allele Identifier: CA317527988
Community Standard Title: NM_001283009.2(RTEL1):c.3110-2A>T
Gene: RTEL1-TNFRSF6B HGNC NCBI
RTEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63694739A>T , CM000682.2:g.63694739A>T GRCh38
NC_000020.10:g.62326092A>T , CM000682.1:g.62326092A>T GRCh37
NC_000020.9:g.61796536A>T NCBI36
NG_033901.1:g.41930A>T
NG_046961.1:g.3089A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.3110-2A>T (RTEL1) MANE Select NP_001269938.1:n.3110-2A>T
ENST00000360203.11:c.3110-2A>T (RTEL1) MANE Select ENSP00000353332.5:n.3110-2A>T
NM_001283009.1:c.3110-2A>T (RTEL1) NP_001269938.1:n.3110-2A>T
NM_001283010.1:c.2441-2A>T (RTEL1) NP_001269939.1:n.2441-2A>T
NM_016434.3:c.3110-2A>T (RTEL1) NP_057518.1:n.3110-2A>T
NM_016434.4:c.3110-2A>T (RTEL1) NP_057518.1:n.3110-2A>T
NM_032957.4:c.3182-2A>T (RTEL1) NP_116575.3:n.3182-2A>T
NM_032957.5:c.3182-2A>T (RTEL1) NP_116575.3:n.3182-2A>T
NR_037882.1:n.3937-2A>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2441-2A>T (RTEL1) ENSP00000322287.5:n.2441-2A>T
ENST00000318100.9:c.2441-2A>T (RTEL1) ENSP00000322287.5:n.2441-2A>T
ENST00000360203.9:c.3110-2A>T (RTEL1) ENSP00000353332.5:n.3110-2A>T
ENST00000370003.2:c.845-2A>T (RTEL1) ENSP00000359020.1:n.845-2A>T
ENST00000370018.7:c.3110-2A>T (RTEL1) ENSP00000359035.3:n.3110-2A>T
ENST00000480273.5:n.3195-2A>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3110-2A>T (RTEL1-TNFRSF6B) ENSP00000457868.1:n.3110-2A>T
ENST00000482936.6:c.*91-2A>T (RTEL1) ENSP00000457868.2:n.*91-2A>T
ENST00000492259.6:c.*712-2A>T (RTEL1-TNFRSF6B) ENSP00000457428.1:n.*712-2A>T
ENST00000496281.1:n.2592-2A>T (RTEL1-TNFRSF6B)
ENST00000496281.2:n.3121-2A>T (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1042-2A>T (RTEL1) ENSP00000425576.1:n.1042-2A>T
ENST00000508582.6:c.3182-2A>T (RTEL1) ENSP00000424307.2:n.3182-2A>T
ENST00000508582.7:c.3182-2A>T (RTEL1) ENSP00000424307.2:n.3182-2A>T
ENST00000697815.1:n.1857-2A>T (RTEL1-TNFRSF6B)